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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2176975137
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.51679804_51679818delinsTTTGGGCAAGCAATG , CM000677.2:g.51679804_51679818delinsTTTGGGCAAGCAATG
GRCh38
NC_000015.9:g.51972001_51972015delinsTTTGGGCAAGCAATG , CM000677.1:g.51972001_51972015delinsTTTGGGCAAGCAATG
GRCh37
NC_000015.8:g.49759293_49759307delinsTTTGGGCAAGCAATG
NCBI36
NG_013214.1:g.3452_3466delinsTTTGGGCAAGCAATG
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